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Updated: Sep 13, 2025

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在PTCH1的一个变体的马赛克主义,导致nevoid基底细胞癌综合征

Inger Norlyk Sheyanth1, Mette Sommerlund2, Hanne Vinter3

  • 1Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark inger2104@hotmail.com.

BMJ case reports
|July 29, 2025
PubMed
概括

一名患有基底细胞癌 (BCC) 的年轻人被诊断出马赛克无基底细胞癌综合征 (NBCCS). 对受影响组织的基因检测,而不是血液,揭示了致病性PTCH1变体,强调了组织活检对NBCCS诊断的重要性.

关键词:
致癌的发生是致癌的产生.遗传查 / 咨询 遗传查 / 咨询皮肤癌是一种皮肤癌.

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